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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COQ8A
(R213G)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
COQ8A
(R213W)
Single nucleotide variant
(missense variant)
Autosomal recessive ataxia due to ubiquinone deficiency
GLikely pathogenic